Gene: [14q13/TMIP] tetramelic mirror-image polydactyly (Laurin-Sandrow syndrome);
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COM |
The provisional TMIP gene had been disrupted by a translocation breakpoint may determine anterior-posterior pattern in early developing limbs (Matsumoto-1997). Matsumoto et al. identified a YAC clone spanning a translocation breakpoint at 14q13. They confirmed that the breakpoint was located between 2 specific loci within a distance of 0.6 cM. Mutation in a HOX gene was suggested by Hatchwell and Dennis (Hatchwell-1996) as a likely candidate for the syndrome." |
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PAT |
The main symptoms are hand and foot anomalies (ulnar and fibular dimelia with complete polysyndactyly and absence of tibia and radius - "mirror hands and feet") and peculiar facies (nasal clefts)." |
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REF |
LIN,LOC "Fukushima K &: Hum Mol Genet, 4, 1643-1648, 1995 PAT "Hatchwell E, Dennis N: J Med Genet, 33, 426-428, 1996 PAT "Kogekar N &: Am J Med Genet, 46, 126-128, 1993 ABR,LOC,LIN "Matsumoto N &: Hum Genet, 99, 450-453, 1997 |
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KEY |
bone |
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CLA |
unknown, basic |
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LOC |
14 q13? |
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MIM |
MIM: 135750 |
