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Stüve–Wiedemann syndrome: long‐term follow‐up and genetic heterogeneity
Author(s) -
Jung C,
Dagoneau N,
Baujat G,
Le Merrer M,
David A,
Di Rocco M,
Hamel B,
Mégarbané A,
SupertiFurga A,
Unger S,
Munnich A,
CormierDaire V
Publication year - 2010
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.2009.01314.x
Subject(s) - respiratory distress , genetic heterogeneity , medicine , leukemia inhibitory factor receptor , dysautonomia , genetics , biology , gene , leukemia inhibitory factor , surgery , phenotype , embryonic stem cell , disease
Jung C, Dagoneau N, Baujat G, Le Merrer M, David A, Di Rocco M, Hamel B, Mégarbané A, Superti‐Furga A, Unger A, Munnich A, Cormier‐Daire V. Stüve–Wiedemann syndrome: long‐term follow‐up and genetic heterogeneity. Stüve–Wiedemann syndrome (SWS, OMIM 601559) is a severe autosomal recessive condition caused by mutations in the leukemia inhibitory receptor ( LIFR) gene. The main characteristic features are bowing of the long bones, neonatal respiratory distress, swallowing/sucking difficulties and dysautonomia symptoms including temperature instability often leading to death in the first years of life. We report here four patients with SWS who have survived beyond 36 months of age with no LIFR mutation. These patients have been compared with six unreported SWS survivors carrying null LIFR mutations. We provide evidence of clinical homogeneity of the syndrome in spite of the genetic heterogeneity.