Holoprosencephaly 6

Watchlist

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Retrieved

2019-09-22

Source

Omim

Trials

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Genes

SHH, SIX3, TGIF1, GLI2, NODAL, ZIC2, CDON, PTCH1, FGF8, DISP1, GAS1, FOXH1, TDGF1, TWSG1, HPE1, PPP1R12A, PSTPIP1, PGAP1, PIGN, DHCR7, GLI3, FGFR1, DLL1, GMPPB, BUB1B, PROP1, SOX2, ARID1A, POMGNT1, BUB3, POMT2, LARGE1, MATN4, SUFU, RB1, CHD7, BUB1, POU1F1, TRIP13, B3GALNT2, CILK1, WDR81, C2CD3, GPKOW, FKTN, FGFR3, LHX4, POMT1, HOXA2, IL10, L1CAM, HUWE1, SEMA3E, OTX2, CEP57, FKRP, PRRX1, HESX1, HTC2, HPE8, NOG, TGIF2, SOD1, STIL, LRP2, MNX1, CNOT1, EAPP, FBXW11, CPLANE1, TCTN1, CAMKMT, ZIC5, UCN2, TCTN3, BOC, OSCP1, RALGAPA1, NR4A3, DKK1, WIF1, CALM1, CALM2, CALM3, CAT, KRIT1, CYP2E1, EYA4, FOXG1, GSK3B, FOXA2, LSS, SMAD2, PAX2, PLTP, POMC, RAC3, RFX4, SIM2, TWIST1, ZIC1, MOGS, KMT2D, SMC1A, CHRD, KATNB1, STAG2, SEPTIN9, SBE2

Drugs

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For phenotypic information and a general discussion of genetic heterogeneity in holoprosencephaly (HPE), see HPE1 (236100).

Clinical Features

Lehman et al. (2001) described a female infant who survived for 5.5 hours after delivery at 33 weeks' gestation. Autopsy showed a lobar variant of holoprosencephaly.

Cytogenetics

By cytogenetic analysis in an infant with a lobar variant of holoprosencephaly, Lehman et al. (2001) identified a 2q37.1-q37.3 deletion. This case represented the fourth reported case of HPE associated with partial monosomy 2q37 and the first with an apparently isolated 2q37 deletion. Lehman et al. (2001) suggested that the deleted segment may contain yet another locus, here designated HPE6, which, when disrupted, can lead to brain malformations within the HPE spectrum.