Primary hyperoxaluria type 1 and brachydactyly mental retardation syndrome caused by a novel mutation in AGXT and a terminal deletion of chromosome 2.

[primary hyperoxaluria type 1]

Primary hyperoxaluria type 1 (PH 1 ) is an autosomal recessive disorder caused by mutations in the alanine :glyoxylate aminotransferase (AGXT ) gene , located on chromosome 2 q 37 . Mutant AGXT leads to excess production and excretion of oxalate , resulting in accumulation of calcium oxalate in the kidney , and progressive loss of renal function . Brachydactyly mental retardation syndrome (BDMR ) is an autosomal dominant disorder , caused by haploinsufficiency of histone deacetylase 4 (HDAC 4 ), also on chromosome 2 q 37 . It is characterized by skeletal abnormalities and developmental delay . Here , we report on a girl who had phenotypes of both PH 1 and BDMR . PCR-sequencing of the coding regions of AGXT showed a novel missense mutation , c .32 C >G (p .Pro 11 Arg ) inherited from her mother . Functional analyses demonstrated that it reduced the enzymatic activity to 31 % of the wild-type and redirected some percentage of the enzyme away from the peroxisome . Microsatellite and array-CGH analyses indicated that the proband had a paternal de novo telomeric deletion of chromosome 2 q , which included HDAC 4 . To our knowledge , this is the first report of PH 1 and BDMR , with a novel AGXT mutation and a de novo telomeric deletion of chromosome 2 q .

Diseases
Validation

Diseases presenting "first report" symptom

achondroplasia

alexander disease

aniridia

cadasil

canavan disease

child syndrome

cohen syndrome

congenital toxoplasmosis

cowden syndrome

cushing syndrome

cutaneous mastocytosis

cystinuria

dedifferentiated liposarcoma

dentinogenesis imperfecta

dracunculiasis

dystrophic epidermolysis bullosa

epidermolysis bullosa simplex

erdheim-chester disease

esophageal squamous cell carcinoma

fabry disease

familial mediterranean fever

focal myositis

harlequin ichthyosis

hirschsprung disease

hodgkin lymphoma, classical

holt-oram syndrome

homocystinuria without methylmalonic aciduria

inclusion body myositis

junctional epidermolysis bullosa

kabuki syndrome

kindler syndrome

krabbe disease

lamellar ichthyosis

liposarcoma

lymphangioleiomyomatosis

monosomy 21

neonatal adrenoleukodystrophy

neuralgic amyotrophy

oculocutaneous albinism

oligodontia

omenn syndrome

pendred syndrome

pleomorphic liposarcoma

primary hyperoxaluria type 1

pyomyositis

pyruvate dehydrogenase deficiency

scrub typhus

severe combined immunodeficiency

sneddon syndrome

triple a syndrome

typhoid

waldenström macroglobulinemia

werner syndrome

wiskott-aldrich syndrome

x-linked adrenoleukodystrophy

zellweger syndrome

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