مراجعة
Strømme Syndrome
العنوان: | Strømme Syndrome |
---|---|
المؤلفون: | Ho SKL; Clinical Genetic Service, Department of Health, Hong Kong Special Administrative Region, China, Leung LT; Clinical Genetic Service, Department of Health, Hong Kong Special Administrative Region, China, Luk HM; Clinical Genetics Service Unit, Hong Kong Children's Hospital, Hong Kong Special Administrative Region, China, Lo IFM; Clinical Genetic Service, Department of Health, Hong Kong Special Administrative Region, China |
المصدر: | 1993. |
المصدر: | In: GeneReviews ® Adam MP; Everman DB; Mirzaa GM; Pagon RA; Wallace SE; Bean LJH; Gripp KW; Amemiya A |
نوع المنشور: | Review |
اللغة: | English |
بيانات الدورية: | Publisher: University of Washington, Seattle Cited Medium: Internet |
أسماء مطبوعة: | Seattle (WA) : University of Washington, Seattle |
مستخلص: | Clinical Characteristics: Strømme syndrome is a clinically variable disorder characterized primarily by small bowel intestinal atresia (including apple peel intestinal atresia), microcephaly, developmental delay and/or intellectual disability, structural brain anomalies, and ocular, genitourinary, and cardiac anomalies. A highly variable clinical presentation is observed among affected individuals that may range from mid-gestation lethality, to multisystem involvement with features implicated in the ciliopathies, to nonsyndromic microcephaly with developmental delay. Apple peel intestinal atresia, a rare form of small bowel atresia involving the proximal jejunum near the ligament of Treitz, occurs in some individuals. Intestinal atresia in individuals with Strømme syndrome can involve the duodenum, jejunum, or multiple segments. Diagnosis/testing: The diagnosis of Strømme syndrome is established in a proband with characteristic features and biallelic CENPF pathogenic variants identified by molecular genetic testing. Management: Treatment: Individualized care by a multidisciplinary team; surgical treatment of gastrointestinal atresia; developmental and educational support; standard treatment for ocular anomalies, vision issues, renal anomalies, and cardiac anomalies; social work involvement and care coordination as needed. Surveillance: Assess growth, feeding, and development at each visit. Follow up for ophthalmologic manifestations and vision issues as recommended by ophthalmologist and low-vision clinic. Genetic Counseling: Strømme syndrome is inherited in an autosomal recessive manner. If both parents are known to be heterozygous for a CENPF pathogenic variant, each sib of an affected individual has at conception a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Once the CENPF pathogenic variants have been identified in an affected family member, carrier testing for at-risk relatives and prenatal/preimplantation genetic testing are possible. (Copyright © 1993-2022, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.) |
References: | Al-Dewik N, Mohd H, Al-Mureikhi M, Ali R, Al-Mesaifri F, Mahmoud L, Shahbeck N, El-Akouri K, Almulla M, Al Sulaiman R, Musa S, Al-Marri AA, Richard G, Juusola J, Solomon BD, Alkuraya FS, Ben-Omran T. Clinical exome sequencing in 509 Middle Eastern families with suspected Mendelian diseases: the Qatari experience. Am J Med Genet A. 2019;179:927–35. (PMID: PMC691639730919572) Alghamdi M, Alkhamis WH, Bashiri FA, Jamjoom D, Al-Nafisah G, Tahir A, Abdouelhoda M. Expanding the phenotype and the genotype of Stromme syndrome: a novel variant of the CENPF gene and literature review. Eur J Med Genet. 2020;63:103844. (PMID: 31953238) Al-Hamed MH, Kurdi W, Khan R, Tulbah M, AlNemer M, AlSahan N, AlMugbel M, Rafiullah R, Assoum M, Monies D, Shah Z, Rahbeeni Z, Derar N, Hakami F, Almutairi G, AlOtaibi A, Ali W, AlShammasi A, AlMubarak W, AlDawoud S, AlAmri S, Saeed B, Bukhari H, Ali M, Akili R, Alquayt L, Hagos S, Elbardisy H, Akilan A, Almuhana N, AlKhalifah A, Abouelhoda M, Ramzan K, Sayer JA, Imtiaz F. Prenatal exome sequencing and chromosomal microarray analysis in fetal structural anomalies in a highly consanguineous population reveals a propensity of ciliopathy genes causing multisystem phenotypes. Hum Genet. 2022;141:101–26. (PMID: 34853893) Blue GM, Mekel M, Das D, Troup M, Rath E, Ip E, Gudkov M, Perumal G, Harvey RP, Sholler GF, Gecz J, Kirk EP, Liu J, Giannoulatou E, Hong H, Dunwoodie SL, Winlaw DS. Whole genome sequencing in transposition of the great arteries and associations with clinically relevant heart, brain and laterality genes. Am Heart J. 2022;244:1–13. (PMID: 34670123) Cappuccio G, Brillante S, Tammaro R, Pinelli M, De Bernardi ML, Gensini MG, Bijlsma EK, Koopmann TT, Hoffer MJV, McDonald K, Hendon LG, Douzgou S, Deshpande C, D'Arrigo S, Torella A, Nigro V, Franco B, Brunetti-Pierri N. Biallelic variants in CENPF causing a phenotype distinct from Strømme syndrome. Am J Med Genet C Semin Med Genet. 2022;190:102–8. (PMID: PMC932242935488810) Caridi G, Lugani F, Lerone M, Divizia MT, Ghiggeri GM, Verrina E. Renal involvement and Strømme syndrome. Clin Kidney J. 2020;14:439–41. (PMID: PMC785784233564452) Filges I, Bruder E, Brandal K, Meier S, Undlien DE, Waage TR, Hoesli I, Schubach M, de Beer T, Sheng Y, Hoeller S, Schulzke S, Røsby O, Miny P, Tercanli S, Oppedal T, Meyer P, Selmer KK, Strømme P. Strømme syndrome is a ciliary disorder caused by mutations in CENPF. Hum Mutat. 2016;37:711. (PMID: 27300082) Ho S, Luk HM, Lo IFM. The first case report of Stromme syndrome in a Chinese patient: expanding the phenotype and literature review. Am J Med Genet A. 2022;188:1626–9. (PMID: 35001526) Jónsson H, Sulem P, Kehr B, Kristmundsdottir S, Zink F, Hjartarson E, Hardarson MT, Hjorleifsson KE, Eggertsson HP, Gudjonsson SA, Ward LD, Arnadottir GA, Helgason EA, Helgason H, Gylfason A, Jonasdottir A, Jonasdottir A, Rafnar T, Frigge M, Stacey SN, Th Magnusson O, Thorsteinsdottir U, Masson G, Kong A, Halldorsson BV, Helgason A, Gudbjartsson DF, Stefansson K. Parental influence on human germline de novo mutations in 1,548 trios from Iceland. Nature. 2017;549:519–22. (PMID: 28959963) Kahrizi K, Hu H, Hosseini M, Kalscheuer VM, Fattahi Z, Beheshtian M, Suckow V, Mohseni M, Lipkowitz B, Mehvari S, Mehrjoo Z, Akhtarkhavari T, Ghaderi Z, Rahimi M, Arzhangi S, Jamali P, Falahat Chian M, Nikuei P, Sabbagh Kermani F, Sadeghinia F, Jazayeri R, Tonekaboni SH, Khoshaeen A, Habibi H, Pourfatemi F, Mojahedi F, Khodaie-Ardakani MR, Najafipour R, Wienker TF, Najmabadi H, Ropers HH. Effect of inbreeding on intellectual disability revisited by trio sequencing. Clin Genet. 2019;95:151–9. (PMID: 30315573) Maddirevula S, Alzahrani F, Al-Owain M, Al Muhaizea MA, Kayyali HR, AlHashem A, Rahbeeni Z, Al-Otaibi M, Alzaidan HI, Balobaid A, El Khashab HY, Bubshait DK, Faden M, Yamani SA, Dabbagh O, Al-Mureikhi M, Jasser AA, Alsaif HS, Alluhaydan I, Seidahmed MZ, Alabbasi BH, Almogarri I, Kurdi W, Akleh H, Qari A, Al Tala SM, Alhomaidi S, Kentab AY, Salih MA, Chedrawi A, Alameer S, Tabarki B, Shamseldin HE, Patel N, Ibrahim N, Abdulwahab F, Samira M, Goljan E, Abouelhoda M, Meyer BF, Hashem M, Shaheen R, AlShahwan S, Alfadhel M, Ben-Omran T, Al-Qattan MM, Monies D, Alkuraya FS. Autozygome and high throughput confirmation of disease genes candidacy. Genet Med. 2019;21:736–42. (PMID: PMC675230730237576) Monies D, Abouelhoda M, Assoum M, Moghrabi N, Rafiullah R, Almontashiri N, Alowain M, Alzaidan H, Alsayed M, Subhani S, Cupler E, Faden M, Alhashem A, Qari A, Chedrawi A, Aldhalaan H, Kurdi W, Khan S, Rahbeeni Z, Alotaibi M, Goljan E, Elbardisy H, ElKalioby M, Shah Z, Alruwaili H, Jaafar A, Albar R, Akilan A, Tayeb H, Tahir A, Fawzy M, Nasr M, Makki S, Alfaifi A, Akleh H, Yamani S, Bubshait D, Mahnashi M, Basha T, Alsagheir A, Khaled MA, Alsaleem K, Almugbel M, Badawi M, Bashiri F, Bohlega S, Sulaiman R, Tous E, Ahmed S, Algoufi T, Al-Mousa H, Alaki E, Alhumaidi S, Alghamdi H, Alghamdi M, Sahly A, Nahrir S, Al-Ahmari A, Alkuraya H, Almehaidib A, Abanemai M, Alsohaibaini F, Alsaud B, Arnaout R, Abdel-Salam GMH, Aldhekri H, AlKhater S, Alqadi K, Alsabban E, Alshareef T, Awartani K, Banjar H, Alsahan N, Abosoudah I, Alashwal A, Aldekhail W, Alhajjar S, Al-Mayouf S, Alsemari A, Alshuaibi W, Altala S, Altalhi A, Baz S, Hamad M, Abalkhail T, Alenazi B, Alkaff A, Almohareb F, Al Mutairi F, Alsaleh M, Alsonbul A, Alzelaye S, Bahzad S, Manee AB, Jarrad O, Meriki N, Albeirouti B, Alqasmi A, AlBalwi M, Makhseed N, Hassan S, Salih I, Salih MA, Shaheen M, Sermin S, Shahrukh S, Hashmi S, Shawli A, Tajuddin A, Tamim A, Alnahari A, Ghemlas I, Hussein M, Wali S, Murad H, Meyer BF, Alkuraya FS. Lessons learned from large-scale, first-tier clinical exome sequencing in a highly consanguineous population. Am J Hum Genet. 2019;105:879. (PMID: PMC681753231585110) Ozkinay F, Atik T, Isik E, Gormez Z, Sagiroglu M, Sahin OA, Corduk N, Onay H. A further family of Stromme syndrome carrying CENPF mutation. Am J Med Genet A. 2017;173:1668–72. (PMID: 28407396) Palombo F, Graziano C, Al Wardy N, Nouri N, Marconi C, Magini P, Severi G, La Morgia C, Cantalupo G, Cordelli DM, Gangarossa S, Al Kindi MN, Al Khabouri M, Salehi M, Giorgio E, Brusco A, Pisani F, Romeo G, Carelli V, Pippucci T, Seri M. Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle East. Hum Genet. 2020;139:1429–41. (PMID: 32488467) Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17:405–24. (PMID: PMC454475325741868) Waters AM, Asfahani R, Carroll P, Bicknell L, Lescai F, Bright A, Chanudet E, Brooks A, Christou-Savina S, Osman G, Walsh P, Bacchelli C, Chapgier A, Vernay B, Bader DM, Deshpande C, O' Sullivan M, Ocaka L, Stanescu H, Stewart HS, Hildebrandt F, Otto E, Johnson CA, Szymanska K, Katsanis N, Davis E, Kleta R, Hubank M, Doxsey S, Jackson A, Stupka E, Winey M, Beales PL. The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes. J Med Genet. 2015;52:147–56. (PMID: PMC434593525564561) |
فهرسة مساهمة: | Keywords: Apple Peel Syndrome with Microcephaly and Ocular Anomalies; Jejunal Atresia with Microcephaly and Ocular Anomalies; Apple Peel Syndrome with Microcephaly and Ocular Anomalies; Jejunal Atresia with Microcephaly and Ocular Anomalies; Centromere protein F; CENPF; Strømme Syndrome |
تواريخ الأحداث: | Date Created: 20221110 |
رمز التحديث: | 20240629 |
PMID: | 36375007 |
Book AN: | NBK586170 |
قاعدة البيانات: | MEDLINE |
الوصف غير متاح. |