Molecular genetic and ocular findings in patients with holt-oram syndrome.

[holt-oram syndrome]

The autosomal dominant Holt-Oram syndrome (HOS ) is characterized by upper limb and cardiac septal defects . Mutations of the TBX 5 gene have been identified as the underlying gene defect in HOS . Embryonic expression of TBX 5 has been found in the human retina . This is the first report of ocular findings in two unrelated families with mutations in the TBX 5 gene .Six living persons affected with HOS and 10 unaffected family members were subjected to mutation analysis and complete ophthalmological examination , including electrophysiological examinations (EOG and flash ERG ).A heterozygous single base-pain substitution in exon 5 (408 C --> A ) was detected in all affected patients . All examined affected patents were ophthalmological asymptomatic with normal EOG . A scotopic elongated b -wave latency was found in affected family members who were older than 35 years . The ERG was normal in the young patients .Haploinsufficiency of TBX 5 alters the dorsal-ventral polarity in developing eye vesicles without amy detected functional loss in human . Slight ERG abnormalities later in life may be a result of changes induced by the inner ganglion cell layer in the inner nuclear layer .

Diseases
Validation

Diseases presenting "pain" symptom

achondroplasia

acute rheumatic fever

adrenal incidentaloma

adrenomyeloneuropathy

aniridia

aromatase deficiency

carcinoma of the gallbladder

cholangiocarcinoma

coats disease

congenital diaphragmatic hernia

congenital toxoplasmosis

cushing syndrome

cutaneous mastocytosis

cystinuria

dedifferentiated liposarcoma

dentin dysplasia

dracunculiasis

dystrophic epidermolysis bullosa

epidermolysis bullosa simplex

erdheim-chester disease

erythropoietic protoporphyria

esophageal adenocarcinoma

esophageal carcinoma

esophageal squamous cell carcinoma

fabry disease

familial mediterranean fever

focal myositis

hirschsprung disease

hodgkin lymphoma, classical

holt-oram syndrome

junctional epidermolysis bullosa

kabuki syndrome

kindler syndrome

lamellar ichthyosis

liposarcoma

locked-in syndrome

lymphangioleiomyomatosis

malignant atrophic papulosis

neuralgic amyotrophy

oligodontia

oral submucous fibrosis

papillon-lefèvre syndrome

phenylketonuria

pleomorphic liposarcoma

primary hyperoxaluria type 1

proteus syndrome

pyomyositis

scrub typhus

sneddon syndrome

systemic capillary leak syndrome

thoracic outlet syndrome

trochlear dysplasia

typhoid

von hippel-lindau disease

waldenström macroglobulinemia

well-differentiated liposarcoma

wolf-hirschhorn syndrome

This symptom has already been validated