Gene: [09q/NPHP2] nephronophthisis, familial infantile 2;
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COM |
Haider et al. identified a 20-cM region on Chr 9q22-q31 that showed linkage to infantile nephronophthisis at lod = 3.17 (theta = 0.0) (Haider-1997). They excluded the NPHP1 locus (GEM:02q13/NPHP1) as the site of the causative mutation." |
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PAT |
The infantile nephronophthisis described in an extended Bedouin family in Israel showed autosomal recessive inheritance and the phenotype ranged from infantile polycystic to 'hyperechogenic' kidneys. Affected individuals showed gradual deterioration of kidney function leading to end-stage renal failure (Haider-1997)." |
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REF |
PAT,LOC,LIN "Haider NB &: AJHG, 61, (Suppl), A14, 1997 |
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KEY |
ren |
|
CLA |
unknown, basic |
|
LOC |
09 q22-q31 |
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MIM |
MIM: 602088 |
