6 - 8 The current study was planned to find out the frequency of AT in homozygous
BT patients in our population as majority of the studies regarding the topic are international while local studies are limited.
Cystic fibrosis with homozygous
R553X mutation in a Taiwanese child.
Herein, we present a patient with a novel homozygous
ABCC8 mutation who was diagnosed with HH in the neonatal period and diabetes at the age of nine years.
A total of 4 of the 10 enzymes (2 each with and without 3'-5' exonuclease activity) yielded a homozygous
result (ie, with allele dropout), and 6 (3 each with and without 3'-5' exonuclease activity) resulted in a heterozygous pattern for the published forward primer.
In their study, the siblings were homozygous
for a frameshift variant in KCNMA1 and had tractable myoclonic seizures starting around the age 1, which later evolved into tonic and GTCS type.
In the study group, homozygous
T variant was seen in 20, CT variant in 15 patients, while homozygous
C variant was seen in none (Figure 5).
Diagnostic laboratory findings of the patients with L-2-hydroxyglutaric aciduria Patient no 1 2 Urine 2-OH glutaric 150 250 acid (mmol/mol/creat) L2HGDH gene mutations R335X (CGA>TGA) R335X (CGA>TGA) homozygous homozygous
Patient no 3 4 5 Urine 2-OH glutaric 308 143 78 acid (mmol/mol/creat) L2HGDH gene mutations p.P302L (c905C>T) p.P302L R282Q /p.A64T (c.1906G>A) (c905 C>T) c.1003C>T compound heterozygote homozygous homozygous
Patient no 6 7 8 Urine 2-OH glutaric 76 1460 135 acid (mmol/mol/creat) L2HGDH gene NA mutations R282Q p.P302L homozygous
(c905 C>T) homozygous
NA: Not applicable, L2HGDH: L-2-hydroxyglutarate dehydrogenase, 2-OH: 2-hydroxy Table III.
The mean birth weights were compared among homozygous
and/or heterozygous piglets with different SLA class II haplotypes (Supplementary Table S1).
Unlike previous reports, this individual was not homozygous
for any CELSR3 variants.
In exon 3 of the HAX1 gene, we found a homozygous
frameshift mutation (c.423_424insG, p.Gly143fs).
alternate allele in chromosome 8 at position 145638714 was identified in the gene SLC39A4 (solute carrier 39 member 4) which is a zinc transporter.
Motoneuron-derived agrin is secreted from nerve terminals into the synaptic cleft and leads to clustering and synthesis of postsynaptic AChRs through activation of the postsynaptic LRP4-MuSK-Dok-7 complex.[sup] There are only a few cases reported about this gene mutation so far.[sup],,, Here, we report a novel homozygous
missense mutation (c.5302G>C) of AGRN in a Chinese CMS pedigree.