Confirmation that RIPK4 mutations cause not only Bartsocas-Papas syndrome but also CHAND syndrome

Tiffany Busa; Mohammed Jeraiby; Alix Clémenson; Sylvie Manouvrier; Viviana Granados; Nicole Philip; Renaud Touraine

doi:10.1002/ajmg.a.38475

Confirmation that RIPK4 mutations cause not only Bartsocas-Papas syndrome but also CHAND syndrome

Am J Med Genet A. 2017 Nov;173(11):3114-3117. doi: 10.1002/ajmg.a.38475. Epub 2017 Sep 21.

Authors

Tiffany Busa¹, Mohammed Jeraiby², Alix Clémenson³, Sylvie Manouvrier⁴, Viviana Granados², Nicole Philip¹, Renaud Touraine²

Affiliations

¹ Unité de génétique clinique, APHM, CHU Timone-Enfants, Marseille, France.
² Service de Génétique Clinique, Chromosomique et Moléculaire, CHU-Hôpital Nord, Saint Etienne, France.
³ Service d'Anatomie et Cytologie Pathologiques, CHU-Hôpital Nord, Saint Etienne, France.
⁴ Service de Génétique médicale, Hôpital Jeanne de Flandre, CHRU de Lille, Lille, France.

PMID: 28940926
DOI: 10.1002/ajmg.a.38475

Abstract

CHAND syndrome is an autosomal recessive disorder characterized by curly hair, ankyloblepharon, and nail dysplasia. Only few patients were reported to date. A homozygous RIPK4 mutation was recently identified by homozygosity mapping and whole exome sequencing in three patients from an expanded consanguineous kindred with a clinical diagnosis of CHAND syndrome. RIPK4 was previously known to be implicated in Bartsocas-Papas syndrome, the autosomal recessive form of popliteal pterygium syndrome. We report here two cases of RIPK4 homozygous mutations in a fetus with severe Bartsocas-Papas syndrome and a patient with CHAND syndrome. The patient with CHAND syndrome harbored the same mutation as the one identified in the family previously reported. We thus confirm the implication of RIPK4 gene in CHAND syndrome in addition to Bartsocas-Papas syndrome and discuss genotype/phenotype correlations.

Keywords: AEC; Bartsocas-Papas syndrome; CHAND syndrome; RIPK4; ectodermal dysplasia.

Publication types

Case Reports

MeSH terms

Child, Preschool
Cleft Lip / diagnosis
Cleft Lip / genetics*
Cleft Lip / physiopathology
Cleft Palate / diagnosis
Cleft Palate / genetics*
Cleft Palate / physiopathology
Consanguinity
Exome / genetics
Eye Abnormalities / diagnosis
Eye Abnormalities / genetics*
Eye Abnormalities / physiopathology
Eyelid Diseases / diagnosis
Eyelid Diseases / genetics*
Eyelid Diseases / physiopathology
Female
Fetus
Hair Diseases / diagnosis
Hair Diseases / genetics*
Hair Diseases / physiopathology
Homozygote
Humans
Infant, Newborn
Knee / abnormalities*
Knee / physiopathology
Language Development Disorders / diagnosis
Language Development Disorders / genetics*
Language Development Disorders / physiopathology
Male
Mutation
Nails, Malformed / diagnosis
Nails, Malformed / genetics*
Nails, Malformed / physiopathology
Protein Serine-Threonine Kinases / genetics*
Syndactyly / diagnosis
Syndactyly / genetics*
Syndactyly / physiopathology

Substances

RIPK4 protein, human
Protein Serine-Threonine Kinases

Supplementary concepts

Curly hair-ankyloblepharon-nail dysplasia syndrome
Popliteal Pterygium Syndrome, Lethal Type