Matthew-Wood syndrome: Report of two new cases supporting autosomal recessive inheritance and exclusion ofFGF10 andFGFR2

Autor: Catherine Fallet-Bianco, Michel Vekemans, Chantal Esculpavit, Jerôme Le Bidois, Véronique Mirlesse, Alexandra Benachi, Christelle Golzio, Nicole Morichon, Férechté Encha-Razavi, Bettina Grattagliano-Bessières, Heather C. Etchevers, Maryse Bonnière, Valérie Malan, Jelena Martinovic-Bouriel, Céline Bernabé-Dupont, Tania Attié-Bitach, Marie-Cécile Aubry
Rok vydání: 2007
Předmět:
Zdroj: American Journal of Medical Genetics Part A. :219-228
ISSN: 1552-4833
1552-4825
DOI: 10.1002/ajmg.a.31599
Popis: We describe two fetal cases of microphthalmia/anophthalmia, pulmonary agenesis, and diaphragmatic defect. This rare association is known as Matthew-Wood syndrome (MWS; MIM 601186) or by the acronym “PMD” (Pulmonary agenesis, Microphthalmia, Diaphragmatic defect). Fewer than ten pre- and perinatal diagnoses of Matthew-Wood syndrome have been described to date. The cause is unknown, and the mode of transmission remains unclear. Most cases have been reported as isolated and sporadic, although recurrence among sibs has been observed once. Our two cases both occurred in consanguineous families, further supporting autosomal recessive transmission. In addition, in one family at least one of the elder sibs presented an evocatively similar phenotype. The spatiotemporal expression pattern of the FGF10 and FGFR2 genes in human embryos and the reported phenotypes of knockout mice for these genes spurred us to examine their coding sequences in our two cases of MWS. While in our patients, no causative sequence variations were identified in FGF10 or FGFR2, this cognate ligand-receptor pair and its downstream effectors remain functional candidates for MWS and similar associations of congenital ocular, diaphragmatic and pulmonary malformations. © 2007 Wiley-Liss, Inc.
Databáze: OpenAIRE
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