27
Feb

Kenzie Kauble – a glimpse into an amazing child’s life

Kenzie Kauble’s Story: when we decided to have our second child we went through all the standard tests, ultrasounds, and doctor appointments. It was a normal pregnancy and delivery with no complications. We brought our beautiful daughter Kenzie home and noticed she was a rather fussy baby. In fact, she cried most all day. She...
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30
Jan

Chromosome 7p22 deletion – symptoms directly caused by the loss of gene ACTB

Chromosome 7p22 deletion and associated symptoms directly caused by the loss of gene ACTB. 7p22 deletion – a deletion within the short arm of chromosome 7 – causes a number of symptoms, including developmental delay, intellectual disability, internal organ malformations (primarily within the heart and kidneys), and facial abnormalities. These facial abnormalities include dense eyelashes,...
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22
Jan

7p15 deletion as the cause of hand-foot-genital syndrome

7p15 deletion as the cause of hand-foot-genital syndrome. Hand-foot-genital syndrome (HFGS) is a rare genetic disorder that is characterized by malformations in the hands, feet and the genitourinary tract. The most frequent limb abnormalities in HFGS include short thumbs and fingers, small feet, clinodactyly (curvature) of the fifth finger, and hallux valgus (a deformity of...
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28
Dec

BPTF gene mutation 17q24.2 deletion – microcephaly, developmental and speech delay

Chromatin remodeling is essential for DNA accessibility and gene regulation, and its disruption leads to a variety of disorders. The protein complex NURF (nucleosome remodeling factor) involved in chromatin remodeling is important in regulating fetal development. NURF contains the proteins SNF2L, pRBAP46/48, and BPTF. BPTF, in particular, is expressed throughout the body. The BPTF gene...
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