Familial CHARGE syndrome and the CHD7 gene: a recurrent missense mutation, intrafamilial recurrence and variability - PubMed (original) (raw)
. 2008 Jan 1;146A(1):43-50.
doi: 10.1002/ajmg.a.31921.
Affiliations
- PMID: 18074359
- DOI: 10.1002/ajmg.a.31921
Familial CHARGE syndrome and the CHD7 gene: a recurrent missense mutation, intrafamilial recurrence and variability
Marjolijn C J Jongmans et al. Am J Med Genet A. 2008.
Abstract
CHARGE syndrome is an autosomal dominant condition that is caused by mutations in the CHD7 gene. Few familial cases of this syndrome have been reported and these were characterized by a wide clinical variability. We here report on five CHD7 mutation positive families and comment on their clinical features. We observed somatic and germline mosaicism as well as parent-to-child transmission of non-mosaic CHD7 mutations as causes of familial CHARGE syndrome. In one family with two affected sibs a somatic mutation was identified in lymphocytes of a clinically unaffected parent (2520G > A in exon 8). This is the second report of somatic CHD7 mosaicism in an unaffected parent. In two further families with affected siblings, we could not detect the mutation in parental lymphocytes suggesting germline mosaicism. The previously reported clinical variability was strikingly present in all five families. We find that alterations in CHD7 can result in a very mild phenotype, characterized by only a few minor symptoms of the CHARGE syndrome clinical spectrum. Such a mild phenotype was present in two families that shared the same 6322G > A missense mutation. These two families showed parent-to-child transmission. Phenotypically milder forms of CHARGE syndrome have a higher risk of transmission to multiple family members.
(c) 2007 Wiley-Liss, Inc.
Similar articles
- Proven germline mosaicism in a father of two children with CHARGE syndrome.
Pauli S, Pieper L, Häberle J, Grzmil P, Burfeind P, Steckel M, Lenz U, Michelmann HW. Pauli S, et al. Clin Genet. 2009 May;75(5):473-9. doi: 10.1111/j.1399-0004.2009.01151.x. Clin Genet. 2009. PMID: 19475719 - Familial CHARGE syndrome because of CHD7 mutation: clinical intra- and interfamilial variability.
Delahaye A, Sznajer Y, Lyonnet S, Elmaleh-Bergès M, Delpierre I, Audollent S, Wiener-Vacher S, Mansbach AL, Amiel J, Baumann C, Bremond-Gignac D, Attié-Bitach T, Verloes A, Sanlaville D. Delahaye A, et al. Clin Genet. 2007 Aug;72(2):112-21. doi: 10.1111/j.1399-0004.2007.00821.x. Clin Genet. 2007. PMID: 17661815 - A familial CHARGE syndrome with a CHD7 nonsense mutation and new clinical features.
Vuorela PE, Penttinen MT, Hietala MH, Laine JO, Huoponen KA, Kääriäinen HA. Vuorela PE, et al. Clin Dysmorphol. 2008 Oct;17(4):249-53. doi: 10.1097/MCD.0b013e328306a704. Clin Dysmorphol. 2008. PMID: 18978652 - Reproductive endocrine phenotypes relating to CHD7 mutations in humans.
Balasubramanian R, Crowley WF Jr. Balasubramanian R, et al. Am J Med Genet C Semin Med Genet. 2017 Dec;175(4):507-515. doi: 10.1002/ajmg.c.31585. Epub 2017 Nov 20. Am J Med Genet C Semin Med Genet. 2017. PMID: 29152903 Free PMC article. Review. - CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype.
Bergman JE, Janssen N, Hoefsloot LH, Jongmans MC, Hofstra RM, van Ravenswaaij-Arts CM. Bergman JE, et al. J Med Genet. 2011 May;48(5):334-42. doi: 10.1136/jmg.2010.087106. Epub 2011 Mar 4. J Med Genet. 2011. PMID: 21378379 Review.
Cited by
- CHARGE syndrome in a child with a CHD7 variant and a novel pathogenic SOX2 variant: A case report.
Kamimura M, Shima H, Suzuki E, Sogi C, Fujiwara I, Adachi M, Haruna H, Takubo N, Fukami M, Kikuchi A, Kanno J. Kamimura M, et al. Clin Pediatr Endocrinol. 2024 Oct;33(4):214-218. doi: 10.1297/cpe.2024-0006. Epub 2024 Jul 7. Clin Pediatr Endocrinol. 2024. PMID: 39359670 Free PMC article. - Knockout, Knockdown, and the Schrödinger Paradox: Genetic Immunity to Phenotypic Recapitulation in Zebrafish.
Arana ÁJ, Sánchez L. Arana ÁJ, et al. Genes (Basel). 2024 Sep 3;15(9):1164. doi: 10.3390/genes15091164. Genes (Basel). 2024. PMID: 39336755 Free PMC article. Review. - CHD7 Disorder-Not CHARGE Syndrome-Presenting as Isolated Cochleovestibular Dysfunction.
Driesen J, Van Hoecke H, Maes L, Janssens S, Acke F, De Leenheer E. Driesen J, et al. Genes (Basel). 2024 May 19;15(5):643. doi: 10.3390/genes15050643. Genes (Basel). 2024. PMID: 38790272 Free PMC article. - CHD7 and SOX2 act in a common gene regulatory network during mammalian semicircular canal and cochlear development.
Gao J, Skidmore JM, Cimerman J, Ritter KE, Qiu J, Wilson LMQ, Raphael Y, Kwan KY, Martin DM. Gao J, et al. Proc Natl Acad Sci U S A. 2024 Mar 5;121(10):e2311720121. doi: 10.1073/pnas.2311720121. Epub 2024 Feb 26. Proc Natl Acad Sci U S A. 2024. PMID: 38408234 Free PMC article. - CHD7 variants associated with hearing loss and enlargement of the vestibular aqueduct.
Roux I, Fenollar-Ferrer C, Lee HJ, Chattaraj P, Lopez IA, Han K, Honda K, Brewer CC, Butman JA, Morell RJ, Martin DM, Griffith AJ. Roux I, et al. Hum Genet. 2023 Oct;142(10):1499-1517. doi: 10.1007/s00439-023-02581-x. Epub 2023 Sep 5. Hum Genet. 2023. PMID: 37668839 Free PMC article.
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
Molecular Biology Databases