Genes and families written for humans

Genes, and where it comes from

The missing page is usually a random accident while a baby is being made. Sometimes it is passed down from a parent who never knew they had it.

Why the same page keeps going missing

Near the 17q12 spot there are long stretches of DNA that look almost identical to each other, like two pages with the same text. When cells copy DNA, those look-alike pages can get lined up wrongly, and the copier skips a piece. Scientists call this non-allelic homologous recombination, which is a long way of saying "the copying machine got confused by two pages that looked the same".

The two genes that matter most

HNF1B - the big one. It helps build kidneys and the pancreas. The pancreas is a small organ

that controls sugar in your blood. If it is not working well, someone can get diabetes.

LHX1 - helps build kidneys too, and works as a team with HNF1B.

The other genes on the missing page are smaller and scientists are still learning what they do.

What the newest stories say

Ten tips for ordering, interpreting, and communicating genetic test results in nephrology
Genetic testing is becoming a routine-and increasingly time-sensitive-tool in nephrology, with implications for diagnosis, prognosis, targeted therapy, transplant planning, and family counselling.

“Novel disease/gene discovery If testing is negative, but the probability of a genetic etiology remains high (e.g. consanguinity, a striking syndromic phenotype, and multiple affected relatives), then consider referral pathways that support gene discovery…”

_{found in 1 stories · we are 97% sure · updated 2026-11-14 · read it}

LHX1
Protein-coding gene in the species Homo sapiens LIM homeobox 1 also known as Lim-1 is a protein that in humans is encoded by the LHX1 gene .

“(April 2011). "LIM-class homeobox gene Lim1, a novel oncogene in human renal cell carcinoma" .”

_{found in 1 stories · we are 97% sure · updated 2026-11-14 · read it}

A familial case report of 17q12 recurrent deletion syndrome: clinical and molecular characterization.
1664-2392 17 2026 Frontiers in endocrinology Front Endocrinol (Lausanne) A familial case report of 17q12 recurrent deletion syndrome: clinical and molecular characterization.

“1819047 1819047 1819047 10.3389/fendo.2026.1819047 This article presents the first reported familial case of 17q12 recurrent deletion syndrome in Russia, involving a female patient with diabetes and her daughter diagnosed with atypical autism without…”

_{found in 1 stories · we are 97% sure · updated 2026-11-14 · read it}

HNF1B gene: MedlinePlus Genetics
HNF1B gene HNF1 homeobox B Normal Function The HNF1B gene provides instructions for making a protein called hepatocyte nuclear factor-1 beta (HNF-1β).

“More About This Health Condition Congenital anomalies of kidney and urinary tract Mutations within the HNF1B gene are found in people with abnormalities of the kidneys and other structures of the urinary tract but without other features of 17q12 deletion…”