Holoprosencephaly 8

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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

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For a phenotypic description and a discussion of genetic heterogeneity of holoprosencephaly, see HPE1 (236100).

Clinical Features

Levin and Surana (1991) described holoprosencephaly in association with an interstitial deletion of chromosome 14q11.1-q13. Parental karyotypes were normal. The white female, born to nonconsanguineous young parents after an uncomplicated pregnancy, showed hypotelorism, lack of nasal bridge, flattened nasal tip with no visible septum, wide midline cleft of lip and hard palate, and ptosis of the left upper eyelid. Axial CT scan of the head was interpreted as showing semilobar holoprosencephaly. The infant died at 8 days of age.

Kamnasaran et al. (2005) reported 6 patients with HPE and interstitial deletions on proximal chromosome 14q: 1 had alobar HPE and 5 had lobar HPE. Other findings included microcephaly, cebocephaly, underdeveloped pituitary gland, hypothyroidism, micrognathia, depressed nasal bridge, iris coloboma, hypertelorism, midface hypoplasia, bilateral cleft lip, respiratory distress, congenital heart defects, and developmental delay.

Cytogenetics

Kamnasaran et al. (2005) reported 6 patients with HPE and interstitial deletions on proximal chromosome 14q, 5 of which were of paternal origin and 1 of maternal origin.

Mapping

Kamnasaran et al. (2005) defined a locus for holoprosencephaly (HPE8) on chromosome 14q13 between markers D14S49 and AFM205XG5, an estimated 2.82-Mb interval, by mapping deletion intervals of affected subjects with proximal chromosome 14q interstitial deletions. Using the deletion intervals of 2 patients with no HPE signs (under the assumption of complete penetrance), the critical region was reduced to an estimated 1.78-Mb interval between markers D14S49 and D14S1014.