Skip to main content

Official Journal of the Human Genome Organisation

Table 3 Genes in Xp21-p22.3 deleted in the patient and included in OMIM morbid map

From: Molecular cytogenetic characterization of two independent karyotypic anomalies in a patient with severe mental retardation and juvenile idiopathic arthritis

Gene symbol

Gene description

Associated disease

NLGN4 a

Neuroligin 4

X-linked mental retardation, autism

VCXA

Variably charged protein X-A

X-linked mental retardation

STS a

Steryl-sulfatase precursor

Ichtyosis

VCX

Variably charged protein X-B1

X-linked mental retardation

VCXB

Variably charged protein X-B

X-linked mental retardation

KAL1 a

Anosmin 1

Kallmann syndrome

TBL1X b

Transducin-beta-like-1

Possibly involved in the pathogenesis of ocular albinism with late-onset sensorineural deafness phenotype

GPR143 b

G protein-coupled receptor 143

Ocular albinism 1

MID1 b

Midline 1

Opitz/BBB syndrome

OFD1a

Orofaciodigital syndrome type I

Orofaciodigital syndrome type I

FANCB c

Fanconi anemia complementation group B

Fanconi anemia

NHS b

Nance-Horan syndrome

Nance-Horan syndrome (congenital cataracts and dental anomalies)

STK9

Serine/threonine kinase-9

X-linked infantile spasm syndrome

RS1 b

Retinoschisis

Retinoschisis (X-linked, juvenile) 1

RPS6KA3 c

Ribosomal protein S6 kinase, 90-KD

X-linked mental retardation, Coffin-Lowry-syndrome

ARX

Aristaless related homeobox

X-linked mental retardation, hydranencephaly and abnormal genitalia

IL1RAPL1

Interleukin 1 receptor accessory protein-like 1

X-linked mental retardation

  1. Escape from X-inactivation according to Carrel and Willard (2005)
  2. Heterogeneity with regard to escape from X-inactivation of this gene has been observed by Carrel and Willard (2005)
  3. c The gene is inactivated according to Carrel and Willard (2005)