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Incomplete Dominance

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Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.

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Related Experiment Video

Updated: Mar 26, 2026

Evaluation of Planar-Cell-Polarity Phenotypes in Ciliopathy Mouse Mutant Cochlea

Evaluation of Planar-Cell-Polarity Phenotypes in Ciliopathy Mouse Mutant Cochlea

Published on: February 21, 2016

Crisponi/CISS1 syndrome: A case series.

Amal M Alhashem¹, Muhammad Ali Majeed-Saidan², Amer N Ammari¹

¹Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.

American Journal of Medical Genetics. Part A

|January 26, 2016

Summary

Crisponi/CISS1 syndrome, a rare genetic disorder, presents with variable severity despite a common mutation in CRLF1. Diagnosis is challenging due to complex phenotypes and overlapping symptoms with other conditions.

Keywords:

CISS1 COG6 CRLF1 Crisponi syndrome cold-induced sweating

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Area of Science:

Genetics
Rare diseases
Molecular biology

Background:

Crisponi/CISS1 syndrome is a rare autosomal recessive disorder.
It is caused by mutations in CRLF1 or CLCF1.
Genotype-phenotype correlations remain elusive.

Purpose of the Study:

To investigate the genotype-phenotype correlation in Crisponi/CISS1 syndrome.
To describe novel mutations and patient cohorts.
To assess phenotypic overlap with other genetic disorders.

Main Methods:

Analysis of 12 patients from four families with Crisponi/CISS1 syndrome.
Genetic sequencing to identify mutations in CRLF1.
Clinical evaluation of patient phenotypes.

Main Results:

A homogeneous c.983dupG mutation in CRLF1 showed highly variable clinical severity.
Phenotypic overlap was observed with COG6-related anhidrosis syndrome.
A novel CRLF1 mutation, c.605delC, was identified in a fifth family.

Conclusions:

The severity of Crisponi/CISS1 syndrome is not solely determined by the CRLF1 mutation.
Diagnostic challenges exist due to complex and overlapping phenotypes.
Underdiagnosis may occur in regions like Saudi Arabia.