Table 4.
Genotype/phenotype correlations are shown for patients with GNRHR mutations that have been supported by functional analysis.
| No | Author | Genotype | Phenotype | n | Sex | Ethnicity |
|---|---|---|---|---|---|---|
|
| ||||||
|
Severe Phenotype—Complete IHH
| ||||||
| 1 | [14, 26] | Ala129Asp/Arg262Gln | Complete | 2 | M,F | NA |
| Complete | M | Caucasian | ||||
|
| ||||||
| 2 | [23, 31] | Arg139His (HMZ) | Complete | 2 | F | Brazilian |
| Complete | M | NA | ||||
|
| ||||||
| 3 | [18] | Leu314X/Gln106Arg | Complete | 1 | F | NA |
|
| ||||||
| 4 | [27] | IVS1, G-A, -1 | Complete | 1 | F | Indian |
|
| ||||||
| 5 | [2] | Arg262Gln/ Tyr284Cys | Complete | 1 | M,F | Caucasian |
|
| ||||||
| 6 | [16] | Ser168Arg (HMZ) | Complete | 1 | M | NA |
|
| ||||||
| 7 | [21] | Thr32Ile/Cys200Tyr | Complete | 1 | M | NA |
|
| ||||||
| 8 | [32] | Ala171Thr/Gln106Arg | Complete | 1 | M | Caucasian |
|
| ||||||
| 9 | [20, 25] | Glu90Lys (HMZ) | Complete | 1 | M | Mexican-mestizo |
|
| ||||||
|
Intermediate Phenotype within Families
| ||||||
| 10 | [1, 17, 21] | Gln106Arg/Arg262Gln | Incomplete | 2 | M,F | NA |
| Complete* | F,F | NA | ||||
|
| ||||||
| 11 | [21] | Gln106Arg/Leu266Arg | Incomplete | 2 | F | NA |
| Complete | F | Caucasian | ||||
|
| ||||||
|
Milder Phenotype—Incomplete IHH
| ||||||
| 12 | [21, 22, 24] | Gln106Arg (HMZ) | Incomplete# | 3 | M | NA |
| Incomplete | F | NA | ||||
| Incomplete$ | M | NA | ||||
|
| ||||||
| 13 | [15] | Arg262Gln/Gln106+Ser217Arg | Incomplete | 1 | M,F | NA |
|
| ||||||
| 14 | [23] | Asn10Lys/Gln106Arg | Incomplete | 1 | M,F | Brazilian |
|
| ||||||
| 15 | [33] | Asn10Lys+Gln11Lys/Pro320Leu | Incomplete | 1 | F | Caucasian |
|
| ||||||
| 16 | [35] | Arg262Gln (HMZ) | Incomplete or CDP | 1 | M, M | Asian Indian |
|
| ||||||
|
Unknown Severity
| ||||||
| 17 | [21] | Cys279Tyr (HMZ) | Unknown | 1 | M | NA |
They are categorized on the basis of disease severity (Complete IHH; Complete or Incomplete IHH; Incomplete IHH); the number of times the specific genotype has been reported in unrelated families, the sex of the proband (M=male; F=female) within the family, and ethnicity.
NA=not available. CDP=constitutional delay of puberty
*
Patient also had a heterozygous FGFR1 mutation. [47]
#
Patient had a spontaneous pregnancy (and therefore reversal).[24]