Contiguous gene deletions involving EFNB1, OPHN1, PJA1 and EDA in patients with craniofrontonasal syndrome

• DOI: 10.1111/j.1399-0004.2007.00905.x
• Publication Date: 2010-07-19T12:03:30Z
• Authors: I Wieland; C Weidner; R Ciccone; E Lapi; D McDonald‐McGinn; W Kress; S Jakubiczka; H Collmann; O Zuffardi; E Zackai; P Wieacker
• Keywords: Ectodysplasin; 0301 basic medicine; Ubiquitin-Protein Ligase; Heterozygote; DNA Primer; Adolescent; Ubiquitin-Protein Ligases; 610; cromosoma X; Ephrin-B1; Craniofacial Abnormalities; 03 medical and health sciences; 616; Cytoskeletal Protein; Humans; genetics; sinrdome cranio-facciale; Child; Preschool; delezione; 10. No inequality; Nuclear Protein; DNA Primers; Base Sequence; GTPase-Activating Protein; Craniofacial Abnormalitie; GTPase-Activating Proteins; Nuclear Proteins; Genetic Diseases, X-Linked; Syndrome; X-Linked; Ectodysplasins; deficiency/genetics; Genetic Disease; Cytoskeletal Proteins; Phenotype; Child, Preschool; Female; Gene Deletion

Craniofrontonasal syndrome (CFNS [MIM 304110]) is an X‐linked malformation characterized by craniofrontonasal dysplasia and extracranial manifestations in heterozygous females. In the majority of patients CFNS caused mutations EFNB1 gene (MIM 300035). We identified three girls with classical mild developmental delay harboring de novo deletions gene. Applying haplotype analysis, Southern blot hybridization array‐comparative genomic hybridization, deletion was found to be part contiguous patients. one patient interval includes genes for oligophrenin‐1 ( OPHN1 300127]) praja 1 PJA1 300420]). second , ectodysplasin A EDA 300451]). third may include regulatory regions 5′ . Previously, has been shown responsible recessive mental retardation. Although it too early predict future cognitive performance two infant OPHN1–EFNB1–PJA1 learning disabilities have recognized older, patient. It important genetic counseling aware that their male offspring not only carriers but also affected retardation anhidrotic ectodermal dysplasia.