Individual #00025128

ID_report -
Reference PubMed: Murakami 2014
Remarks Two siblings,4 and 2-year-old, with mental retardation.
Gender -
Consanguinity yes
Country Syria
Population African
Age/Death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases MRT-42
Owner name Philippe Campeau


Phenotypes

mental retardation, autosomal recessive, type 42 (MRT-42, glycosylphosphatidylinositol deficiency, type 9 (GPIBD-9)) (MRT-42;GPIBD-9)   Add phenotype for this disease

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0000021240 At birth, the older sister was hypotonic and his borther was a floppy baby. Both children have a developmental delay and severe intellectual disability with an estimated IQ below 35. The girl had major and absence epilepsy. They showed some stereotypic movements. Brain CT scan of the girl at age of one year revealed pronounced brain atrophy. They had microcephaly. Both children have large ears and a flattened nasal root. Their parents had head circumferences in the lower percentiles. - - Familial, autosomal recessive - - - - - Philippe Campeau



Screenings


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Owner     
0000025130 DNA SEQ-NG - - PGAP1 1 Philippe Campeau



Variants

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2 Both (homozygous) +/+ g.197777664_197777666delAAG g.196912940_196912942delAAG - - PGAP1_000005 The mutation was not found in in 372 healthy Syrian adults using Sanger sequencing. Molecular modeling showed that this mutation disrupts the packing of the hydrophobic core and consequently of the entire β-sheet topology, thus leading to a loss of tertiary structure and enzymatic activity. Surface expression of GPI-APs on B-lymphoblastoid cell lines derived from an affected person, parents and controls showed no significant difference. Structural abnormality of GPI-anchors was tested. All GPI-APs on the affected LCLs had abnormal GPI anchors resistant to PI-PLC. This is an indication that the p.Leu197del mutation causes null or almost null activity of the PGAP1 enzyme. GPI-APs on LCLs from heterozygous parents were only partially sensitive to PI-PLC indicating haploinsufficiency. These defective sensitivities were restored by wt-PGAP1 cDNA transfection. PubMed: Murakami et al. 2014 - rs587777378 Germline yes - - 0 - Philippe Campeau PGAP1 - - - - - - NM_024989.3:c.589_591delCTT - - r.(?) p.(Leu197del) - - - - - - - - - - - - - - - - - - -
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